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BBS2

BBS2

Protein-coding gene in the species Homo sapiens

Bardet–Biedl syndrome 2 protein is a protein that in humans is encoded by the BBS2 gene. This gene encodes a protein of unknown function. Mutations in this

BBS2

BBSome

Protein complex involved in cilium biogenesis

proteins (BBS1, BBS2, BBS4, BSS5, BBS7, BBS8, and BBS9). They also discovered the relationship between the subunits of interactions of BBS1/BBS2/BBS7 with β-propeller

BBSome

Bardet–Biedl syndrome

Ciliopathic recessive genetic disorder

different genes had been identified. Genes involved include: BBsome: BBS1, BBS2, ARL6/BBS3, BBS4, BBS5, BBS7, TTC8/BBS8, BBS10, TRIM32/BBS11 BBS12, CCDC28B

Bardet–Biedl syndrome

Bardet–Biedl_syndrome

Vaginal atresia

Abnormal closure or absence of the vagina

condition. Some of the gene mutations that occur in BBS are listed below: BBS1, BBS2, ARL6 (BBS3), BBS4, BBS5, MKKS (BBS6), BBS7, TTC8 (BBS8), BBS9, BBS10, TRIM32

Vaginal atresia

Vaginal_atresia

Retinitis pigmentosa

Gradual retinal degeneration leading to progressive sight loss

ZNF408 Retinitis pigmentosa-72 616544 HGSNAT Retinitis pigmentosa-73 616562 BBS2 Retinitis pigmentosa-74 617023 AGBL5 Retinitis pigmentosa-75 617123 POMGNT1

Retinitis pigmentosa

Retinitis_pigmentosa

Agyneta serratula

Species of spider

Agyneta serratula Wikidata: Q19595828 Wikispecies: Agyneta serratula CoL: BBS2 GBIF: 8154509 iNaturalist: 807968 Open Tree of Life: 3564545 WSC: urn:lsid:nmbe

Agyneta serratula

Agyneta_serratula

Ciliopathy

Genetic disease resulting in abnormal formation or function of cilia

IFT139, IFT140, IFT144, WDR35 Bardet–Biedl syndrome 209900 ARL6, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12, MKKS, MKS1, MKS3, SDCCAG8, TTC8, TRIM32

Ciliopathy

Coiled coil

Structural motif in proteins

coiled coil interaction has been observed to drive the oligomerization of the BBS2 and BBS7 subunits of the BBSome. Because coiled-coils generally interact

Coiled coil

Coiled_coil

Human disease modifier gene

Type of modifier gene

likely requires the presence of three mutant alleles, including those in BBS2, BBS6, and possibly in other loci and they identified a digenic mechanism

Human disease modifier gene

Human_disease_modifier_gene

List of human protein-coding genes 1

HGNC:19855; Q8ND07 1444 BBOX1 HGNC:964; O75936 1445 BBS1 HGNC:966; Q8NFJ9 1446 BBS2 HGNC:967; Q9BXC9 1447 BBS4 HGNC:969; Q96RK4 1448 BBS5 HGNC:970; Q8N3I7 1449

List of human protein-coding genes 1

List_of_human_protein-coding_genes_1

Rivka Carmi

Israeli pediatrician and geneticist (born 1948)

Andorf, Jeaneen L.; Mykytyn, Kirk; Swiderski, Ruth E. (23 November 2004). "Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy

Rivka Carmi

Rivka_Carmi

MKKS

Protein-coding gene in the species Homo sapiens

JL, Kim JC, Hoskins BE, et al. (2003). "Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with

MKKS

BBS1

Protein

Bardet–Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2". Am J Hum Genet. 72 (3): 650–8. doi:10.1086/368204. PMC 1180240. PMID 12567324

BBS1

List of OMIM disorder codes

Bardet–Biedl syndrome 15; 209900; C2orf86 Bardet–Biedl syndrome 2; 209900; BBS2 Bardet–Biedl syndrome 3; 209900; ARL6 Bardet–Biedl syndrome 4; 209900; BBS4

List of OMIM disorder codes

List_of_OMIM_disorder_codes

BBS7

Protein-coding gene in the species Homo sapiens

Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2". Am. J. Hum. Genet. 72 (3): 650–8. doi:10.1086/368204. PMC 1180240. PMID 12567324

BBS7

BBS10

Gene

extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism". European Journal of Human

BBS10